KEGG   Homo sapiens (human): 1297Help
Entry
1297              CDS       T01001                                 

Gene name
COL9A1, DJ149L1.1.2, EDM6, MED, STL4
Definition
(RefSeq) collagen type IX alpha 1 chain
  KO
K08131  collagen, type IX, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Disease
H00476  Multiple epiphyseal dysplasia
H02072  Stickler syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1297 (COL9A1)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1297 (COL9A1)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1297 (COL9A1)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1297 (COL9A1)
 09160 Human Diseases
  09172 Infectious diseases: Viral
   05165 Human papillomavirus infection
    1297 (COL9A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00535 Proteoglycans [BR:hsa00535]
    1297 (COL9A1)
Proteoglycans [BR:hsa00535]
 Extracellular matrix (ECM) proteoglycans
  Collagen family
   1297 (COL9A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Collagen Laminin_G_2 Laminin_G_3 Toxin_R_bind_N
Motif
Other DBs
NCBI-GeneID: 1297
NCBI-ProteinID: NP_001842
OMIM: 120210
HGNC: 2217
Ensembl: ENSG00000112280
Vega: OTTHUMG00000014988
Pharos: P20849(Tbio)
UniProt: P20849
Structure
PDB: 

Position
6q13
AA seq 921 aa AA seqDB search
MKTCWKIPVFFFVCSFLEPWASAAVKRRPRFPVNSNSNGGNELCPKIRIGQDDLPGFDLI
SQFQVDKAASRRAIQRVVGSATLQVAYKLGNNVDFRIPTRNLYPSGLPEEYSFLTTFRMT
GSTLKKNWNIWQIQDSSGKEQVGIKINGQTQSVVFSYKGLDGSLQTAAFSNLSSLFDSQW
HKIMIGVERSSATLFVDCNRIESLPIKPRGPIDIDGFAVLGKLADNPQVSVPFELQWMLI
HCDPLRPRRETCHELPARITPSQTTDERGPPGEQGPPGPPGPPGVPGIDGIDGDRGPKGP
PGPPGPAGEPGKPGAPGKPGTPGADGLTGPDGSPGSIGSKGQKGEPGVPGSRGFPGRGIP
GPPGPPGTAGLPGELGRVGPVGDPGRRGPPGPPGPPGPRGTIGFHDGDPLCPNACPPGRS
GYPGLPGMRGHKGAKGEIGEPGRQGHKGEEGDQGELGEVGAQGPPGAQGLRGITGIVGDK
GEKGARGLDGEPGPQGLPGAPGDQGQRGPPGEAGPKGDRGAEGARGIPGLPGPKGDTGLP
GVDGRDGIPGMPGTKGEPGKPGPPGDAGLQGLPGVPGIPGAKGVAGEKGSTGAPGKPGQM
GNSGKPGQQGPPGEVGPRGPQGLPGSRGELGPVGSPGLPGKLGSLGSPGLPGLPGPPGLP
GMKGDRGVVGEPGPKGEQGASGEEGEAGERGELGDIGLPGPKGSAGNPGEPGLRGPEGSR
GLPGVEGPRGPPGPRGVQGEQGATGLPGVQGPPGRAPTDQHIKQVCMRVIQEHFAEMAAS
LKRPDSGATGLPGRPGPPGPPGPPGENGFPGQMGIRGLPGIKGPPGALGLRGPKGDLGEK
GERGPPGRGPNGLPGAIGLPGDPGPASYGRNGRDGERGPPGVAGIPGVPGPPGPPGLPGF
CEPASCTMQAGQRAFNKGPDP
NT seq 2766 nt NT seq  +upstreamnt  +downstreamnt
atgaagacctgctggaaaattccagttttcttctttgtgtgcagtttcctggaaccctgg
gcatctgcagctgtcaagcgtcgccccagattccctgtcaattccaattctaatggtgga
aatgaactctgtccaaagatcaggattggccaagatgacttaccagggtttgatctgatc
tctcagttccaggtagataaagcagcatctagaagagctatccagagagtagtgggatca
gctacattgcaggtggcttacaagttgggaaataatgtagacttcaggattccaactagg
aatttatatcccagtggactgcctgaagaatactccttcttgacgacgtttcgaatgact
ggaagcactctcaaaaagaactggaacatttggcagattcaggattcctctgggaaggag
caagttggcataaagattaatggccaaacacaatctgttgtattttcatacaagggactg
gatggaagtctccaaacagcagccttttcgaatttgtcctccttgtttgattcccagtgg
cataagatcatgattggcgtggagaggagtagtgctactctttttgttgactgcaacagg
attgaatctttacctataaagccaagaggcccaattgacattgatggctttgctgtgctg
ggaaaacttgcagataatcctcaagtttctgttccatttgaacttcaatggatgctgatc
cattgtgaccccctgcggcccaggagagaaacttgccatgagctgccagccagaataacg
cccagccagaccaccgacgagagaggtcccccgggtgagcagggtcctcccgggcctccg
ggcccccctggagttccaggcatcgatggcatcgacggtgaccgaggtcctaagggcccc
ccgggccccccgggtcctgcaggtgaaccgggaaagccaggagctccaggcaagcctggc
acacctggcgctgatggattaacaggacctgatggatcccctggctccattgggtcaaag
ggacaaaaaggagaacctggtgtgcctggatcgcgtggatttccaggccgtggtattcct
ggaccccctggtcctcctgggacagcaggactccctggagagcttggccgtgtaggacct
gttggtgaccctgggagaagaggaccacctggcccccctggccccccaggacccagagga
acaattggctttcatgatggagatccattgtgtcccaatgcctgtccaccaggtcgctca
ggatatccaggcctaccaggcatgaggggtcataaaggggctaaaggagaaattggtgaa
ccaggaagacaaggacacaagggtgaagaaggtgaccagggagaactcggagaagttgga
gctcaaggacctccaggagcccagggtttgcgaggcatcaccggcatagttggggacaaa
ggggaaaaaggtgctcggggcttagatggtgaacctgggcctcagggtcttcctggtgca
cctggtgatcaaggacagcgaggacctccaggagaagcaggtcccaaaggagatagaggg
gctgaaggtgctagaggaattcctggtctccctgggcccaaaggagacacgggtttgcca
ggtgtggatggccgtgatgggatccctggaatgcctggaacaaagggtgaaccaggaaaa
cctgggcctcctggtgatgcaggattgcaggggttaccaggtgtacctggaattcctggt
gcaaagggtgttgctggtgaaaagggtagcacaggtgctccagggaagcctggtcagatg
ggaaattcaggcaaaccgggccaacaggggcctccaggagaggtgggaccccgaggaccc
caggggcttcctggcagtagaggagaattaggaccagtgggatccccaggcctaccaggt
aaactgggttctctgggtagccctggcctccctggcttgcctgggccccctggacttcct
ggaatgaaaggtgacaggggtgtagtcggtgaaccgggtccaaagggtgaacagggtgcc
tctggtgaagaaggtgaagcaggagaaaggggggaacttggagatataggattacctggc
ccaaagggatctgcaggtaatcctggggaacctggcttgagagggcctgagggaagtcgg
gggcttcctggagtggaaggaccaagaggaccacctggaccccggggtgtgcagggagaa
cagggtgccaccggcctgcctggtgtccagggccctccgggtagagcaccgacagatcag
cacattaagcaggtttgcatgagagtcatacaagaacattttgctgagatggctgccagt
cttaagcgtccagactcaggtgccactgggcttcctggaaggcctggccctcctggtccc
cccggccctcctggagagaatggtttcccaggccagatgggaattcgtggccttccgggc
attaaggggccccctggtgctcttggtttgaggggacctaaaggtgacttgggagaaaag
ggggagcgtggccctccaggaagaggtcccaacggtttgcctggagctataggtctccca
ggtgacccaggccctgccagctatggcagaaatggccgagacggtgagcgaggcccccca
ggggtggcaggaattcctggagtgcctggacccccgggacctcctgggcttcccggtttc
tgtgagccagcctcctgcaccatgcaggctggtcagcgagcatttaacaaagggcctgac
ccttga

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